• Title/Summary/Keyword: Variant

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Effect of SLCO1B1 T521C on Statin-induced Myotoxicity: A Systematic Review and Meta-analysis (SLCO1B1 T521C가 스타틴에 의한 근육독성 발생에 미치는 영향: 체계적 문헌고찰 및 메타분석)

  • Lee, Young Sook;Chun, Pusoon
    • Korean Journal of Clinical Pharmacy
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    • v.28 no.4
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    • pp.320-332
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    • 2018
  • Background: This study was performed to clarify the effect of SLCO1B1 T521C on statin-induced myotoxicity. Methods: The PubMed, Embase, Ovid, and Cochrane Library databases were searched for all published studies between database inception and April 2018. Using Review Manager 5, the pooled odds ratio (OR) and corresponding 95% confidence interval (CI) were determined to assess the effect of SLCO1B1 T521C on statin-induced myotoxicity by using different genetic models. Results: Eleven observational studies and one randomized controlled trial were included in the meta-analysis. The pooled analysis showed that the incidence of statin-induced myotoxicity was significantly associated with the SLCO1B1 521C variant allele. Among patients using statins, the incidence of myotoxicity was higher in those carrying the 521TC or 521CC variant than in those carrying the 521TT variant in the dominant model (TC + CC vs TT, OR: 1.57; 95% CI: 1.20, 2.05; p = 0.001). The 521TC genotype was associated with a higher risk of myotoxicity than the 521TT genotype (OR: 1.42; 95% CI: 1.09, 1.86; p = 0.009). Furthermore, the incidence of myotoxicity was higher in 521CC carriers than in 521TC carriers (OR: 1.40; 95% CI: 1.06, 1.83; p = 0.02) and noticeably higher in 521CC carriers than in 521TT carriers (OR: 2.26; 95% CI: 1.23, 4.17; p = 0.009). Conclusion: The identification of individuals with the SLCO1B1 521C variant allele prior to the initiation of statin therapy might be useful to predict the risk of toxicity development, determine the individual dose, and prevent myotoxicity.

Alternative splicing variant of NRP/B promotes tumorigenesis of gastric cancer

  • Kim, Aram;Mok, Bo Ram;Hahn, Soojung;Yoo, Jongman;Kim, Dong Hyun;Kim, Tae-Aug
    • BMB Reports
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    • v.55 no.7
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    • pp.348-353
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    • 2022
  • Gastrointestinal cancer is associated with a high mortality rate. Here, we report that the splice variant of NRP/B contributes to tumorigenic activity in highly malignant gastric cancer through dissociation from the tumor repressor, HDAC5. NRP/B mRNA expression is significantly higher in the human gastric cancer tissues than in the normal tissues. Further, high levels of both the NRP/B splice variant and Lgr5, but not the full-length protein, are found in highly tumorigenic gastric tumor cells, but not in non-tumorigenic cells. The loss of NRP/B markedly inhibits cell migration and invasion, which reduces tumor formation in vivo. Importantly, the inhibition of alternative splicing increases the levels of NRP/B-1 mRNA and protein in AGS cells. The ectopic expression of full-length NRP/B exhibits tumor-suppressive activity, whereas NRP/B-2 induces the noninvasive human gastric cancer cells tumorigenesis. The splice variant NRP/B-2 which loses the capacity to interact with tumor repressors promoted oncogenic activity, suggesting that the BTB/POZ domain in the N-terminus has a crucial role in the suppression of gastric cancer. Therefore, the regulation of alternative splicing of the NRP/B gene is a potential novel target for the treatment of gastrointestinal cancer.

A Case Report of Korean Medicine Treatment for A Patient with Variant Angina and Asthma Symptoms (천식 증상을 가진 변형 협심증 환자에 대한 한방치료 증례보고)

  • Kim, Min-joo;Kwo, Tae-ha
    • The Journal of Internal Korean Medicine
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    • v.43 no.5
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    • pp.864-873
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    • 2022
  • Objective: The purpose of this case study was to report the symptom improvement effect of integrative Korean medicine treatment based on Pyongsim Solution: Cheonwangbosim-dan in a patient with variant angina and asthma symptoms. Methods: This 68-year-old male patient was treated with Pyongsim Solution, Gamihyangsayukgunja-tang, Gwakhyangjunggi-san, acupuncture, pharmacopuncture, and cupping therapy for 24 days. The European Quality of Life-5 Dimensions-5 Levels profile, Numerical Rating Scale score, and pulse rate per minute were measured on admission, at two weeks of hospitalization, and upon discharge to assess the clinical outcomes. Results: After treatment, the "mobility" dimension profile of the European Quality of Life-5 Dimensions-5 Levels changed from 1 to 1, "self-care" changed from 1 to 1, "usual activity" changed from 3 to 2, "pain/discomfort" changed from 4 to 3, and "anxiety/depression" changed from 3 to 2. The Numerical Rating Scale score for chest pain decreased from 7 to 5, chest tightness decreased from 6 to 4, sleep disturbance decreased from 6 to 3, polydipsia decreased from 5 to 3, and stomach discomfort decreased from 5 to 3. All the profiles of these five dimensions were unchanged for 11 days in the period between the two weeks of hospitalization and discharge. There were also no changes in the profiles of either "mobility" or "self-care" throughout the entire 24-day hospitalization period. Conclusion: This case report shows that integrative Korean medicine treatment based on Pyongsim Solution can improve the symptoms of patients with variant angina and mild intermittent asthma, suggesting that Pyongsim Solution could be an important herbal medication for treatment.

Role of MYH Polymorphisms in Sporadic Colorectal Cancer in China: A Case-control, Population-based Study

  • Yang, Liu;Huang, Xin-En;Xu, Lin;Zhou, Jian-Nong;Yu, Dong-Sheng;Zhou, Xin;Li, Dong-Zheng;Guan, Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6403-6409
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    • 2013
  • Purpose: Biallelic germline variants of the 8-hydroxyguanine (8-OG) repair gene MYH have been associated with colorectal neoplasms that display somatic $G:C{\rightarrow}T:A$ transversions. However, the effect of single germline variants has not been widely studied, prompting the present investigation of monoallelic MYH variants and susceptibility to sporadic colorectal cancer (CRC) in a Chinese population. Patients and Methods: Between January 2006 and December 2012, 400 cases of sporadic CRC and 600 age- and sex-matched normal blood donors were screened randomly for 7 potentially pathogenic germline MYH exons using genetic testing technology. Variants of heterozygosity at the MYH locus were assessed in both sporadic cancer patients and healthy controls. Univariate and multivariate analyses were performed to determine risk factors for cancer onset. Results: Five monoallelic single nucleotide polymorphisms (SNPs) were identified in the 7 exon regions of MYH, which were detected in 75 (18.75%) of 400 CRC patients as well as 42 (7%) of 600 normal controls. The region of exon 1 proved to be a linked polymorphic region for the first time, a triple linked variant including exon 1-316 $G{\rightarrow}A$, exon 1-292 $G{\rightarrow}A$ and intron 1+11 $C{\rightarrow}T$, being identified in 13 CRC patients and 2 normal blood donors. A variant of base replacement, intron 10-2 $A{\rightarrow}G$, was identified in the exon 10 region in 21 cases and 7 controls, while a similar type of variant in the exon 13 region, intron 13+12 $C{\rightarrow}T$, was identified in 8 cases and 6 controls. Not the only but a newly missense variant in the present study, p. V463E (Exon 14+74 $T{\rightarrow}A$), was identified in exon 14 in 6 patients and 1 normal control. In exon 16, nt. 1678-80 del GTT with loss of heterozygosity (LOH) was identified in 27 CRC cases and 26 controls. There was no Y165C in exon 7 or G382D in exon 14, the hot-spot variants which have been reported most frequently in Caucasian studies. After univariate analysis and multivariate analysis, the linked variant in exon 1 region (p=0.002), intron 10-2 $A{\rightarrow}G$ (p=0.004) and p. V463E (p=0.036) in the MYH gene were selected as 3 independent risk factors for CRC. Conclusions: According to these results, the linked variant in Exon 1 region, Intron 10-2 $A{\rightarrow}G$ of base replacement and p. V463E of missense variant, the 3 heterozygosity variants of MYH gene in a Chinese population, may relate to the susceptibility to sporadic CRC. Lack of the hot-spot variants of Caucasians in the present study may due to the ethnic difference in MYH gene.

Signal transient simulation of multi-coupledm frequency-variant transmission lines (주파수 종속 다중 전송선의 신호 천이 특성)

  • Cho, Young-Il;Eo, Yung-Seon
    • Journal of the Institute of Electronics Engineers of Korea SD
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    • v.43 no.12 s.354
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    • pp.89-101
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    • 2006
  • Frequency-variant transmission line parameters are determined. Then the signal transient characterizations of frequency-dependent multi-coupled lines are investigated. With the proposed method, an accurate signal integrity degradation such as signal ringing (overshoot, undershoot) and crosstalk noises relevant to the switching patterns of signals, rising / falling time(tr, tf) and line lengths is investigated. It is shown that there may be approximately 26% discrepancy of signal transients and 260% difference of crosstalk noises between the constant RLC model and frequency-variant RLC model in on-chip global interconnects while those of package lines are 11% and 70%, respectively.

Warthin-Like Tumor of Thyroid Gland : A Case Report (갑상선의 Warthin 모양 종양 1예)

  • Kwon Ki-Hwan;Yoon Jong-Ho;Hong Soon-Won;Koo Ja-Seung;Chung Woung-Youn;Park Cheong-Soo
    • Korean Journal of Head & Neck Oncology
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    • v.20 no.1
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    • pp.33-36
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    • 2004
  • Papillary carcinoma of thyroid is the most common thyroid carcinoma carrying better prognosis than the other thyroid carcinoma. Among the variants in the papillary thyroid carcinoma, the tall cell variant and diffuse sclerosing variants have more aggressive behavior than the classic papillary carcinoma. Recently, a new variant of papillary carcinoma has been reported which was named warthin-like tumor of the thyroid because of its close histologic resemblance to a tumor encountered in the salivary gland, carrying favorable prognosis. Since then, in English literature, a few cases have been reported, but in Korea have not been reported yet. We report a case of warthin-like tumor of the thyroid. A 38 year-old woman who had neck mass, was administered for thyroid surgery due to suspicious thyroid cytology. Right total thyroidectomy and left subtotal thyroidectomy with central compartment node dissection was performed. Histologic diagnosis was made as a Warthin-like tumor of the thyroid.

A Case of Balsalazide-Induced Limited Form of Granulomatosis with Polyangiitis with Bronchiolitis Obliterans Organizing Pneumonia-like Variant in Ulcerative Colitis

  • Kang, Shin-Myung;Jang, Young-Rock;Yoon, Hyun-Hwa;Kim, Su-Ji;Kim, Eun-Young;Ha, Seung-Yeon;Park, Jeong-Woong
    • Tuberculosis and Respiratory Diseases
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    • v.72 no.3
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    • pp.323-327
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    • 2012
  • 5-Aminosalicylate agents are the main therapeutic agents for ulcerative colitis. Balsalazide is a prodrug of 5-aminosalicylate and has fewer side effects than the other 5-aminosalicylate agents. Pulmonary complications resembling granulomatosis with polyangiitis in ulcerative colitis are extremely rare. Here, we report a patient with ulcerative colitis on balsalazide presenting respiratory symptoms and multiple pulmonary nodules from a chest radiography that was pathologically diagnosed with a limited form of granulomatosis with polyangiitis with bronchiolitis obliterans organizing pneumonia-like variant. To our knowledge, this is the first report of a balsalazide-induced limited form of granulomatosis with polyangiitis with bronchiolitis obliterans organizing pneumonia-like variant.

Fine Needle Aspiration Cytology of Diffuse Sclerosing Variant of Papillary Carcinoma of the Thyroid - A Case Report - (갑상선의 미만성 경화성 변종 유두상 암종의 세침흡인 세포학적 소견 - 1예 보고 -)

  • Kim, Joon-Mee;Min, Soo-Kee;Chu, Young-Chae;Kim, Mi-Rim;Kim, Kyung-Rae
    • The Korean Journal of Cytopathology
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    • v.11 no.1
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    • pp.47-52
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    • 2000
  • Diffuse sclerosing papillary carcinoma(DSPC), a variant of papillary carcinoma of the thyroid, is characterized by diffuse involvement of one or both thyroid lobes, and histologic features such as prominent sclerosis, intense lymphocytic infiltrate, numerous psammoma bodies, and squamous metaplasia together with the characteristic cytoarchitectural pattern of classical papillary carcinoma. We experienced a case of fine needle aspiration cytologic(FNAC) findings of DSPC, which was confirmed by histologic examination of the thyroidectomy specimens. The patient was 26 years old female who presented with diffuse firm enlargement of the thyroid gland with enlargement of many cervical lymph nodes. FNAC smears showed numerous psammoma bodies, many lymphocytes, metaplastic squamous cells, absence of stringy colloid, and epithelial cells showing classical features of papillary carcinoma, such as nuclear grooves, intranuclear unclusions, and ground glass chromatin pattern.

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A VARIANT OF THE QUADRATIC FUNCTIONAL EQUATION ON GROUPS AND AN APPLICATION

  • Elfen, Heather Hunt;Riedel, Thomas;Sahoo, Prasanna K.
    • Bulletin of the Korean Mathematical Society
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    • v.54 no.6
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    • pp.2165-2182
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    • 2017
  • Let G be a group and $\mathbb{C}$ the field of complex numbers. Suppose ${\sigma}:G{\rightarrow}G$ is an endomorphism satisfying ${{\sigma}}({{\sigma}}(x))=x$ for all x in G. In this paper, we first determine the central solution, f : G or $G{\times}G{\rightarrow}\mathbb{C}$, of the functional equation $f(xy)+f({\sigma}(y)x)=2f(x)+2f(y)$ for all $x,y{\in}G$, which is a variant of the quadratic functional equation. Using the central solution of this functional equation, we determine the general solution of the functional equation f(pr, qs) + f(sp, rq) = 2f(p, q) + 2f(r, s) for all $p,q,r,s{\in}G$, which is a variant of the equation f(pr, qs) + f(ps, qr) = 2f(p, q) + 2f(r, s) studied by Chung, Kannappan, Ng and Sahoo in [3] (see also [16]). Finally, we determine the solutions of this equation on the free groups generated by one element, the cyclic groups of order m, the symmetric groups of order m, and the dihedral groups of order 2m for $m{\geq}2$.

Growth and Physiological Effects of Immunity Feed Additives on the Juvenile Red Sea Cucumber Stichopus japonicus (홍해삼(Stichopus japonicus) 치삼의 성장 및 면역증강을 위한 면역증강사료첨가제의 개발)

  • Namgung, Jin;Ahn, Kyoung-Jin;Yeo, In-Kyu
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.48 no.4
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    • pp.466-473
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    • 2015
  • The juvenile red variant of the sea cucumber Stichopus japonicus is distributed worldwide. It is a valuable food source in Korea, China, and Japan. Major issues in farming the juvenile red variant sea cucumber include growth rates and disease resistance. In recent years, studies have focused on feed additives to enhance immune system and health. In this study, we used a common diet (CD), a nutritional diet (ND; mixed nutritional supplements), and an immunity diet (ID; mixed probiotics, spirulina, and levan) and compared the growth rates and immunity of juvenile red variant sea cucumbers fed the experimental diets for 12 weeks. The growth and survival rates in the ID group were significantly increased (P>0.05). This suggests that the feed additives positively influenced immunity and growth in the ID group. However, the immune activity was exhibit a stabilizing effect, and further investigation of immune effects is required.